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Introduction: Alcoholic Liver Disease (ALD) is one of the most significant issues affecting the world today and is the principal cause of atleast 60 of the most significant forms of systemic disorders. The metabolic breakdown of alcohol into acetaldehydes is catalysed by Alcohol Dehydrogenase (ALDH). Aim: To find out the Glu504 Lys genotype and Single Nucleotide Polymorphisms (SNPs) in the exon 12 and 13 of ALDH2 gene in alcoholic liver cirrhosis patients. Materials and Methods: This cross-sectional study was conducted at the Department of General Medicine and Genetics Laboratory of the BLDE (Deemed to be University) Shri BM Patil Medical College Hospital and Research Centre (SBMPMC), Vijayapura, Karnataka, India. The study period was from January 2021 to June 2022. ALD patients were recruited. For the present study, 32 patients with ALD symptoms were recruited, and a total of 32 age- and sex-matched controls were included. Patients with existing or past co-infections with Hepatitis B or C and other causes of chronic liver disease were excluded. Blood samples were collected from all patients and subjected to genetic analysis; Polymerase Chain Reaction (PCR) products were then analysed using Sanger-based Deoxyribonucleic Acid (DNA) sequencing. Results: The mean age of all patients and controls in the present study was 44.06 and 52.09 years, respectively. Out of 32 cases, two mutations were found in exon 13: g.47794 A>T (heterozygous) and g.47854 T>G (heterozygous). These mutations occurred in patients who were younger (mean age 29.5 years) and consumed less alcohol (108 g/day) for a shorter duration (5.5 years) compared to the remaining cases. No SNPs were found in exon 12 of the ALDH2 gene. Conclusion: Mutations in the exon 13 regions of the ALDH2 gene may be responsible for early predisposition to the disease. Early genetic analysis in selected populations to identify these mutations may help prevent the occurrence of the disease. An association study of the ALDH2 gene with ALD will be conducted in larger samples, along with biochemical and other clinical investigations, to determine the association of these gene polymorphisms.

Objective: Caregiver burden in caring patients in intensive care unit (ICU) settings are stressful and challenging place. Caregivers also play very important role in doctor–patient relationship. In India, there is a skewed trend in doctor–patient relationship. Without addressing caregiver's psychological issues, we may not able to deliver good medical services. “Caregiver burden in primary caregivers of patients admitted to medical ICU (MICU) was measured. Methodology: Its cross-section observational study. We collected the information from total of 100 caregivers whose patient got admitted to MICU. We took only one caregiver. We administered socio-demographic data, Zarit Caregiver Burden Interview (ZBI) for assessing burden in caregivers. Results: The mean age of the caregivers was 38 years with 66% males were being primary caregivers and mean age of education was 8.61 years. The mean duration of patient stay in hospital was 4.67 days with range of 4–18 days. Mean duration of illness in patient was 466 days with range of 4 days to 10 years. Mean score caregivers burden as per ZBI was 5.10 with range of 0–25. Thirty-five percentage of caregiver were felt caregiving was the burden. Correlation analysis shows ZBI negative relationship with caregivers' age and education and patients total duration of illness. There was a positive co-relationship with the duration of ICU admission. Conclusion: Higher burden was observed in caregivers and caregivers felt more burden if patients stays longer duration in ICU. More research is needed in this area.

Klinefelter Syndrome is a chromosomal disorder with addition of X sex chromosome (47XXY) in males. A patient attended to our hospital with loss of secondary sexual characteristics and male infertility. Physical examination revealed thin built, hypogonadism and absence of pubic hairs. Karyotype and biochemical analysis were performed to detect chromosomal abnormality as well as hormonal level to confirm the diagnosis of Klinefelter syndrome.

ABSTRACT Parkinson’s Disease (PD) is a relatively common neuro degenerative disorder in the geriatric age group. The pathophysiological changes in these patients predispose to major systemic complications like aspiration pneumonitis, respiratory depression, myocardial depression and postural hypotension. Anaesthetic agents interact with the anti-Parkinsonian medication and this may lead to adverse effects. Here, we are presenting a case report of the anaesthetic management of a patient with a history of Parkinson’s disease, who was posted for emergency laparotomy.